AMER1 APC membrane recruitment protein 1
Gene ID: 139285, updated on 5-Mar-2024Gene type: protein coding
Also known as: WTX; OSCS; FAM123B
- See all available tests in GTR for this gene
- Go to complete Gene record for AMER1
- Go to Variation Viewer for AMER1 variants
Summary
The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Osteopathia striata with cranial sclerosis | See labs |
Genomic context
- Location:
- Xq11.2
- Sequence:
- Chromosome: X; NC_000023.11 (64185117..64205708, complement)
- Total number of exons:
- 2
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AMER1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- FAM123B @ LOVD
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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